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Next Generation Sequencing Facility


High-throughput sequencing technologies have revolutionized all fields of biosciences and are essential to the discovery of gene functions and their involvement in disease conditions. Next generation sequencing (NGS) produces a huge volume of sequencing data with cheap costs/base and is applied to both functional genomics (e.g. global analysis of gene expression) and structural genomics (e.g. genomic sequencing of individual genomes). Our facility uses SBS Illumina HiSeq technology.ngsinterest

The NGS facility, coordinated by Vincenzo Nigro, has performed in-house whole-exome sequencing (WES), RNA sequencing and preferential exome sequencing. Since 2012, the NGS facility has analyzed 2,460 samples, of which about 440 were analyzed by WES, and the remaining by targeted NGS approaches. New disease genes, such as LGMD1F, have so far been identified.

The main instruments used are the Illumina HiSeq1000 system and the computing cluster.